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| Gene | BTK |
| Variant | K433T |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | BTK K433T lies within the protein kinase domain of the Btk protein (UniProt.org). K433T retains binding to Plcg2 and Cdc37, but results in decreased protein stability and expression, loss of Plcg2 phosphorylation and Btk autophosphorylation, and elevated phosphorylation of Akt in anti-immunoglobulin treated patient cells in culture (PMID: 33419778). |
| Associated Drug Resistance | |
| Category Variants Paths |
BTK mutant BTK inact mut BTK K433T |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101356835T>G |
| cDNA | c.1298A>C |
| Protein | p.K433T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.3 | chrX:g.101356835T>G | c.1298A>C | p.K433T | RefSeq | GRCh38/hg38 |
| NM_000061.2 | chrX:g.101356835T>G | c.1298A>C | p.K433T | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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